mrcholland產(chǎn)品

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mrcholland產(chǎn)品

SALSA MC002 SMA Newborn Screen

SMA

5q13.2

Melt Assay

Probemix P018 SHOX

Leri-Weill dyschondrosteosis (LWD); Langer mesomelic dysplasia (LMD); Idiopathic short stature (ISS)

SHOX Xp22.33/Yp11.32

MLPA

Probemix P021 SMA

Spinal muscular atrophy (SMA)

SMN1 5q13.2; SMN2 5q13.2

MLPA

Probemix P033 CMT1

Charcot-Marie-Tooth neuropathy (CMT); Neuropathy with liability to pressure palsies, hereditary (HNPP)

CMT/HNPP region 17p12; KIF1b 1p36

MLPA

Probemix P034 DMD mix 1

Duchenne muscular dystrophy (DMD); Becker muscular dystrophy (BMD)

DMD Xp21.1-p21.2

MLPA

Probemix P035 DMD mix 2

Duchenne muscular dystrophy (DMD); Becker muscular dystrophy (BMD)

DMD Xp21.1-p21.2

MLPA

Probemix P036 Subtelomeres Mix 1

Subtelomeric testing

All subtelomeres

MLPA

Probemix P050 CAH

Congenital adrenal hyperplasia (CAH)

CYP21A2 6p21.3

MLPA

Probemix P055 PAH

Phenylketonuria (PKU)

PAH 12q23.2

MLPA

Probemix P060 SMA Carrier

Spinal muscular atrophy (SMA)

SMN1 5q13.2; SMN2 5q13.2

MLPA

Probemix P070 Subtelomeres Mix 2B

Subtelomeric testing

All subtelomeres

MLPA

Probemix P091 CFTR

Cystic fibrosis; Congenital absence of the vas deferens (CAVD)

CFTR 7q31.2

MLPA

Probemix P095 Aneuploidy

Down syndrome; Edwards syndrome; Patau syndrome; Turner syndrome; Triple X syndrome; Klinefelter syndrome; XYY syndrome

Chr. 13, 18, 21, X, Y

MLPA

Probemix P140 HBA

Alpha-thalassemia

HBA 16p13.3

MLPA

Probemix P250 DiGeorge

DiGeorge syndrome; 22q11.2 deletion syndrome; 22q11.2 duplication syndrome; DGS type II; Disorders with phenotypic features of DGS; Cat eye syndrome (CES); Velocardiofacial syndrome (VCFS)

22q11.2; 22q13; 17p; 10p; 9q; 8p; 4q

MLPA

Probemix P405 CMT1

Charcot-Marie-Tooth neuropathy (CMT); Neuropathy with liability to pressure palsies, hereditary (HNPP)

CMT/HNPP region 17p12; MPZ 1q23.3; GJB1 Xq13.1